Novel diagnostic approach to citrin deficiency: Analysis of citrin protein in lymphocytes
Tài liệu tham khảo
Saheki, 1987, Hereditary disorders of the urea cycle in man: biochemical and molecular approaches, Rev. Physiol. Biochem. Pharmacol., 108, 21, 10.1007/BFb0034071
Kobayashi, 1993, A search for the primary abnormality in adult-onset type II citrullinemia, Am. J. Hum. Genet., 53, 1024
Kobayashi, 2000, Type II citrullinemia (Citrin deficiency): a mysterious disease caused by a defect of calcium-binding mitochondrial carrier protein, 565
Kobayashi, 1999, The gene mutated in adult-onset type II citrullinaemia encodes a putative mitochondrial carrier protein, Nat. Genet., 22, 159, 10.1038/9667
Yasuda, 2000, Identification of two novel mutations in the SLC25A13 gene and detection of seven mutations in 102 patients with adult-onset type II citrullinemia, Hum. Genet., 107, 537, 10.1007/s004390000430
Palmieri, 2001, Citrin and aralar1 are Ca2+-stimulated aspartate/glutamate transporters in mitochondria, EMBO J., 20, 5060, 10.1093/emboj/20.18.5060
Saheki, 2002, Mitochondrial aspartate glutamate carrier (citrin) deficiency as the cause of adult-onset type II citrullinemia (CTLN2) and idiopathic neonatal hepatitis (NICCD), J. Hum. Genet., 47, 333, 10.1007/s100380200046
Saheki, 2004, Adult-onset type II citrullinemia and idiopathic neonatal hepatitis caused by citrin deficiency: involvement of the aspartate glutamate carrier for urea synthesis and maintenance of the urea cycle, Mol. Genet. Metab., 81, S20, 10.1016/j.ymgme.2004.01.006
Ohura, 2001, Neonatal presentation of adult-onset type II citrullinemia, Hum. Genet., 108, 87, 10.1007/s004390000448
Tazawa, 2001, Infantile cholestatic jaundice associated with adult-onset type II citrullinemia, J. Pediatr., 138, 735, 10.1067/mpd.2001.113264
Tomomasa, 2001, Possible clinical and histological manifestations of adult-onset type II citrullinemia in early infancy, J. Pediatr., 138, 741, 10.1067/mpd.2001.113361
Naito, 2002, Type II citrullinaemia (citrin deficiency) in a neonate with hypergalactosaemia detected by mass screening, J. Inherit. Metab. Dis., 25, 71, 10.1023/A:1015198103395
Yamaguchi, 2002, Screening of SLC25A13 mutations in early and late onset patients with citrin deficiency and in the Japanese population: Identification of two novel mutations and establishment of multiple DNA diagnosis methods for nine mutations, Hum. Mutat., 19, 122, 10.1002/humu.10022
Tamamori, 2002, Neonatal intrahepatic cholestasis caused by citrin deficiency: severe hepatic dysfunction in an infant requiring liver transplantation, Eur. J. Pediatr., 161, 609, 10.1007/s00431-002-1045-2
Ohura, 2003, A novel inborn error of metabolism detected by elevated methionine and/or galactose in newborn screening: neonatal intrahepatic cholestasis caused by citrin deficiency, Eur. J. Pediatr., 162, 317, 10.1007/s00431-003-1171-5
Tazawa, 2004, Clinical heterogeneity of neonatal intrahepatic cholestasis caused by citrin deficiency:case reports from 16 patients, Mol. Genet. Metab., 83, 213, 10.1016/j.ymgme.2004.06.018
Tamamori, 2004, Effects of citrin deficiency in the perinatal period: feasibility of newborn mass screening for citrin deficiency, Pediatr. Res., 56, 608, 10.1203/01.PDR.0000139713.64264.BC
Onuki, 2000, Genetic abnormality in 2 brothers of a case with adult-onset type II citrullinemia: trial of pre-onset genetic diagnosis, Acta Hepatologica. Jpn., 41, 555, 10.2957/kanzo.41.555
Imamura, 2003, Effectiveness of carbohydrate-restricted diet and arginine granules therapy for adult-onset type II citrullinemia: a case report of siblings showing homozygous SLC25A13 mutation with and without the disease, Hepatol. Res., 26, 68, 10.1016/S1386-6346(02)00331-5
Lu, 2005, Frequency and distribution in East Asia of 12 mutations identified in the SLC25A13 gene of Japanese patients with citrin deficiency, J. Hum. Genet., 50, 338, 10.1007/s10038-005-0262-8
del Arco, 2000, Characterization of a second member of the subfamily of calcium-binding mitochondrial carriers expressed in human non-excitable tissues, Biochem. J., 345, 725, 10.1042/0264-6021:3450725
Iijima, 2001, Pathogenesis of adult-onset type II citrullinemia caused by deficiency of citrin, a mitochondrial solute carrier protein: tissue and subcellular localization of citrin, Adv. Enzyme. Regul., 41, 325, 10.1016/S0065-2571(00)00022-4
Begum, 2002, Expression of three mitochondrial solute carriers, citrin, aralar1 and ornithine transporter, in relation to urea cycle in mice, Biochim. Biophys. Acta, 1574, 283, 10.1016/S0167-4781(01)00376-1
del Arco, 2002, Expression of the aspartate/glutamate mitochondrial carriers aralar1 and citrin during development and in adult rat tissues, Eur. J. Biochem., 269, 3313, 10.1046/j.1432-1033.2002.03018.x
Takaya, 2005, Variant clinical courses of two neonatal intrahepatic cholestasis patients with a novel mutation of SLC25A13, Metabolism, 54, 1615, 10.1016/j.metabol.2005.06.009
Kobayashi, 1997, Pancreatic secretory trypsin inhibitor as a diagnostic marker for adult-onset type II citrullinemia, Hepatology, 25, 1160, 10.1002/hep.510250519
Hwu, 2001, A Chinese adult-onset type II citrullinaemia patient with 851del4/1638ins23 mutations in the SLC25A13 gene, J. Med. Genet., 38, E23, 10.1136/jmg.38.7.e23
Yang, 2003, A case report of adult-onset type II citrullinemia, Chin. J. Med. Genet., 20, 380
Song, 2006, A difficult and complicated case study: neonatal intrahepatic cholestasis caused by citrin deficiency, Zhongguo Dang Dai Er Ke Za Zhi, 8, 125
Yeh, 2006, Hepatic steatosis and neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) in Taiwanese infants, J. Pediatr., 148, 642, 10.1016/j.jpeds.2005.12.020
N.C. Lee, Y.H. Chien, K. Kobayashi, T. Saheki, H.L. Chen, P.C. Chiu, Y.H. Ni, M.H. Chang, W.L. Hwu, Time course of acylcarnitine elevation in neonatal intrahepatic cholestasis caused by citrin deficiency, J. Inherit. Metab. Dis., in press.
Lee, 2002, Citrullinaemia type II: a rare cause of neonatal hepatitis detected by newborn screening, J. Inherit. Metab. Dis., S25
Ben-Shalom, 2002, Infantile citrullinemia caused by citrin deficiency with increased dibasic amino acids, Mol. Genet. Metab., 77, 202, 10.1016/S1096-7192(02)00167-1